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Penetrance
Known as:
Genetic Penetrance
The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From…
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National Institutes of Health
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2 relations
Anticipation, Genetic
Genes, Modifier
Papers overview
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Highly Cited
2002
Highly Cited
2002
Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel α1 subunit gene, SCN1A
M. Ito
,
H. Nagafuji
,
+8 authors
S. Kaneko
Epilepsy Research
2002
Corpus ID: 25555020
Highly Cited
1997
Highly Cited
1997
Familial intracranial aneurysms
Y. Ruigrok
,
G. Rinkel
,
+16 authors
Ryynanen M
The Lancet
1997
Corpus ID: 24678413
Highly Cited
1997
Highly Cited
1997
Analysis of the apo E/apo C-I, angiotensin converting enzyme and methylenetetrahydrofolate reductase genes as candidates affecting human longevity.
D. Galinsky
,
Carolyn Tysoe
,
+5 authors
D. C. Rubinsztein
Atherosclerosis
1997
Corpus ID: 24570898
Review
1990
Review
1990
The retinoblastoma gene and cell growth control.
R. Weinberg
TIBS -Trends in Biochemical Sciences. Regular ed
1990
Corpus ID: 43244849
Highly Cited
1988
Highly Cited
1988
X-ray- and chemically induced germ-line mutation causing phenotypical anomalies in mice.
Taisei Nomura
Mutation research
1988
Corpus ID: 28068071
Highly Cited
1982
Highly Cited
1982
Familial granulomatous arteritis with polyarthritis of juvenile onset.
D. Rotenstein
,
D. Gibbas
,
B. Majmudar
,
E. A. Chastain
New England Journal of Medicine
1982
Corpus ID: 29638050
Granulomatous arteritis, which occurs through cell-mediated immune mechanisms, can be seen in several disease states. This…
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Highly Cited
1977
Highly Cited
1977
Genetics of juvenile diabetes mellitus. A recessive gene closely linked to HLA D and with 50 per cent penetrance.
Pablo Rubinstein
,
Nicole Suciu-Foca
,
J. Nicholson
New England Journal of Medicine
1977
Corpus ID: 42151114
We investigated the genetic predisposition to juvenile diabetes in the families of 31 index cases in relation to the inheritance…
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Highly Cited
1969
Highly Cited
1969
Dominant retinitis pigmentosa with reduced penetrance.
E. Berson
,
P. Gouras
,
R. Gunkel
,
N. Myrianthopoulos
A M A Archives of Ophthalmology
1969
Corpus ID: 45468691
A family with autosomal dominant retinitis pigmentosa showing reduced penetrance is described. Reduced penetrance is established…
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Highly Cited
1960
Highly Cited
1960
Waardenburg's syndrome
A. Digeorge
,
R. Olmsted
,
R. D. Harley
1960
Corpus ID: 68367197
Highly Cited
1959
Highly Cited
1959
A familial study in idiopathic hemochromatosis.
T. Bothwell
,
I. Cohen
,
O. L. Abrahams
,
S. Perold
American Journal of Medicine
1959
Corpus ID: 7185563
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